Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

2 structures for Q9Y4E5

Entry ID Method Resolution Chain Position Source
5D2M X-ray 240 A G 2-56 PDB
AF-Q9Y4E5-F1 Predicted AlphaFoldDB

766 variants for Q9Y4E5

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 2 G>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1434234345
CA364558227
2 G>E No ClinGen
gnomAD
CA364558219
rs1320853227
2 G>R No ClinGen
TOPMed
gnomAD
rs773881121
CA3872788
4 P>L No ClinGen
ExAC
gnomAD
CA3872787
rs539262099
4 P>S No ClinGen
1000Genomes
ExAC
gnomAD
rs759301478
CA3872789
5 G>E No ClinGen
ExAC
gnomAD
rs1285352102
CA364558281
6 S>P No ClinGen
gnomAD
rs1187171358
COSM1194763
COSM1194764
COSM1194762
CA364558289
7 E>Q lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA364558431
rs1328842821
10 E>Q No ClinGen
gnomAD
CA364558452
rs1207392897
11 S>Y No ClinGen
gnomAD
CA364558474
rs1265612143
13 P>S No ClinGen
gnomAD
CA364558657
rs1483854724
25 D>A No ClinGen
gnomAD
CA364558744
rs1200579391
30 D>N No ClinGen
gnomAD
CA364558849
rs1254824593
35 S>N No ClinGen
gnomAD
rs1429158702
CA364560775
38 P>L No ClinGen
gnomAD
rs1468323807
CA364560777
39 L>V No ClinGen
gnomAD
rs1359975881
CA364560784
40 R>* No ClinGen
gnomAD
CA3872815
rs763630111
40 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA139215422
rs369953486
41 P>L No ClinGen
ESP
TOPMed
CA3872816
rs776274983
41 P>S No ClinGen
ExAC
gnomAD
rs761897875
CA3872817
42 V>I No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 44 E>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1324461554
CA364560810
45 Y>N No ClinGen
TOPMed
CA3872818
rs562634270
46 I>V No ClinGen
1000Genomes
ExAC
gnomAD
rs201359346
CA139215436
50 S>N No ClinGen
Ensembl
rs1388690823
CA364560882
55 E>K No ClinGen
TOPMed
rs1481952897
CA364560895
56 P>L No ClinGen
TOPMed
gnomAD
rs1206680540
CA364560909
58 T>I No ClinGen
gnomAD
rs762620320
CA3872820
61 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs988893231
CA139215450
62 D>E No ClinGen
TOPMed
rs756897516
CA3872915
63 E>D No ClinGen
ExAC
gnomAD
rs1475517070
CA364540663
63 E>K No ClinGen
gnomAD
rs201025365
CA3872916
64 N>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM137922
rs773342895
CA3872917
67 R>C skin [Cosmic] No ClinGen
cosmic curated
ExAC
TOPMed
gnomAD
CA3872918
rs146617736
67 R>H No ClinGen
ESP
ExAC
gnomAD
rs146617736
CA3872919
67 R>L No ClinGen
ESP
ExAC
gnomAD
CA364540796
rs1290207691
71 I>T No ClinGen
TOPMed
CA3872920
rs746799621
71 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs773409577
CA139207689
72 D>N No ClinGen
TOPMed
gnomAD
rs979795661
CA139207692
72 D>V No ClinGen
TOPMed
rs1327279291
CA364540820
73 Y>C No ClinGen
gnomAD
rs1327279291
CA364540818
73 Y>F No ClinGen
gnomAD
CA3872921
rs768436276
74 Q>R No ClinGen
ExAC
gnomAD
CA3872922
rs781271625
75 K>* No ClinGen
ExAC
gnomAD
rs1229234364
CA364540899
77 K>I No ClinGen
gnomAD
rs1273163494
CA364540921
78 V>A No ClinGen
gnomAD
rs1593121967
CA364540953
81 T>P No ClinGen
Ensembl
rs1593121976
CA364540971
82 L>R No ClinGen
Ensembl
CA3872925
rs773477753
84 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3872926
rs763095241
84 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA364540998
rs763095241
84 R>L No ClinGen
ExAC
TOPMed
gnomAD
CA364540995
rs763095241
84 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA3872927
rs199659697
87 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs200292215
CA3872928
87 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA139207702
rs200292215
87 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1485015061
CA364541050
89 V>I No ClinGen
TOPMed
rs767990691
CA3872930
91 V>G No ClinGen
ExAC
gnomAD
CA364541085
rs1165345915
91 V>M No ClinGen
TOPMed
gnomAD
rs1161488736
CA364541213
97 E>A No ClinGen
gnomAD
CA3872932
rs761502058
97 E>D No ClinGen
ExAC
rs1211660941
CA364541242
98 E>D No ClinGen
TOPMed
rs764838188
CA3872933
101 R>K No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 101 R>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749963138
CA364541333
104 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA364542040
rs1562608535
105 E>K No ClinGen
Ensembl
CA139208577
rs903794581
106 K>T No ClinGen
TOPMed
gnomAD
CA139208581
rs1031863814
107 I>M Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1318022890
CA364542093
108 D>G No ClinGen
TOPMed
CA364542121
rs1308403748
110 Q>* No ClinGen
gnomAD
rs774726212
CA3872949
111 H>Q No ClinGen
ExAC
TOPMed
gnomAD
CA139208584
rs1000806396
111 H>R No ClinGen
TOPMed
rs772434206
CA3872951
113 H>R No ClinGen
ExAC
gnomAD
rs1211084322
CA364542225
117 E>Q No ClinGen
gnomAD
CA364542251
rs1593127102
118 L>S No ClinGen
Ensembl
rs1303162464
CA364542280
120 F>C No ClinGen
TOPMed
rs1237419395
CA364542283
121 I>L No ClinGen
Ensembl
CA364542290
rs1484602361
122 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1207007297
CA364542294
122 R>Q No ClinGen
gnomAD
CA364542331
rs1251210205
125 S>F No ClinGen
gnomAD
CA3872955
rs772789092
127 T>P No ClinGen
ExAC
TOPMed
gnomAD
rs1469527063
CA364542388
128 E>G No ClinGen
TOPMed
rs1009057679
CA139208605
133 C>Y No ClinGen
Ensembl
CA364542464
rs1172705979
134 V>A No ClinGen
TOPMed
rs1373850620
CA364542505
136 Q>H No ClinGen
gnomAD
rs765977771
CA364542552
139 K>* No ClinGen
ExAC
TOPMed
gnomAD
CA3872958
rs765977771
139 K>Q No ClinGen
ExAC
TOPMed
gnomAD
COSM1080803
rs1182735370
CA364542578
COSM1080802
140 M>I Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
TCGA novel 141 P>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3872979
rs767585060
146 G>D No ClinGen
ExAC
gnomAD
rs766141571
CA139212771
150 C>S No ClinGen
TOPMed
rs865832627
CA139212774
152 T>K No ClinGen
Ensembl
rs1224954879
CA364543633
154 S>G No ClinGen
gnomAD
rs868445538
CA139212776
155 S>L No ClinGen
Ensembl
COSM1271432
CA3872980
COSM1271431
rs752623979
157 R>* Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs1335357514
CA364543684
157 R>Q No ClinGen
TOPMed
gnomAD
CA3872981
rs755979596
158 R>S No ClinGen
ExAC
gnomAD
rs764049654
CA3872982
159 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA3872983
COSM3949377
rs374303703
COSM3949376
162 T>M lung [Cosmic] No ClinGen
cosmic curated
ESP
ExAC
TOPMed
gnomAD
CA364543750
rs374303703
162 T>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA364543762
rs1427162641
163 W>* No ClinGen
gnomAD
CA139212786
rs1016695274
163 W>* No ClinGen
TOPMed
rs778962045
CA364543782
164 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs778962045
CA3872985
164 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs539641641
CA3872987
169 I>V No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA364543867
rs1163602976
170 L>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1289149229
CA364543919
173 I>V No ClinGen
TOPMed
gnomAD
CA364543934
rs1360807039
174 M>V No ClinGen
gnomAD
rs747579655
CA3872989
176 C>G No ClinGen
ExAC
gnomAD
rs1377931883
CA364544007
178 K>E No ClinGen
TOPMed
rs769134947
CA3872990
178 K>R No ClinGen
ExAC
TOPMed
gnomAD
rs1251393843
CA364544195
187 L>F No ClinGen
TOPMed
CA3872995
rs566758775
189 H>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1593133636
CA364544269
192 R>M No ClinGen
Ensembl
rs765005180
CA3873023
194 D>V No ClinGen
ExAC
gnomAD
rs761669957
CA3873022
194 D>Y No ClinGen
ExAC
gnomAD
TCGA novel 195 H>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1442765250
CA364544510
198 C>G No ClinGen
gnomAD
rs146455740
CA3873027
202 I>V No ClinGen
ESP
ExAC
gnomAD
rs867049921
CA139213188
205 H>R No ClinGen
TOPMed
gnomAD
rs373009990
CA139213190
206 G>E No ClinGen
ESP
TOPMed
CA3873029
rs140750140
207 P>S No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140750140
CA3873028
207 P>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs753080140
CA364544675
209 F>I No ClinGen
ExAC
TOPMed
gnomAD
CA3873031
rs753080140
209 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA364544688
rs1593136446
210 S>G No ClinGen
Ensembl
CA364544757
rs1438909685
214 C>Y No ClinGen
gnomAD
CA3873033
rs778060175
215 V>L No ClinGen
ExAC
gnomAD
rs749637191
CA364544789
216 V>I No ClinGen
ExAC
TOPMed
gnomAD
rs749637191
CA3873034
216 V>L No ClinGen
ExAC
TOPMed
gnomAD
rs979747221
CA139213205
217 C>Y No ClinGen
TOPMed
TCGA novel 219 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 220 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364544889
rs1456111504
COSM1080807
COSM1080806
221 F>C Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
TCGA novel 221 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364544926
rs1395339134
223 T>I No ClinGen
gnomAD
CA3873036
rs536434206
225 Q>K No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1198679292
CA364545015
227 Y>S No ClinGen
gnomAD
rs1327161354
CA364545026
228 R>G No ClinGen
TOPMed
TCGA novel 228 R>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364545040
rs1421304462
228 R>S No ClinGen
gnomAD
CA364546211
rs1467758007
236 A>V No ClinGen
gnomAD
CA364546223
rs1562617293
237 T>I No ClinGen
Ensembl
CA3873046
rs766613708
238 D>A No ClinGen
ExAC
TOPMed
gnomAD
CA364546227
rs1593147118
238 D>N No ClinGen
Ensembl
rs774502508
CA3873047
240 G>A No ClinGen
ExAC
gnomAD
CA364546245
rs1593147138
240 G>R No ClinGen
Ensembl
CA364546263
rs1421434669
241 H>R No ClinGen
gnomAD
rs561794841
CA3873049
242 N>K No ClinGen
1000Genomes
ExAC
gnomAD
CA364546306
rs1165759971
245 L>F No ClinGen
gnomAD
CA3873050
rs150092828
246 L>F No ClinGen
ESP
ExAC
gnomAD
rs1403670377
CA364546330
247 P>L No ClinGen
gnomAD
CA364546346
rs1320597012
249 I>V No ClinGen
gnomAD
rs1327224714
CA364546384
252 C>Y No ClinGen
gnomAD
rs1430513699
CA364546390
253 F>V No ClinGen
gnomAD
TCGA novel 254 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs756629783
CA3873051
255 C>R No ClinGen
ExAC
gnomAD
CA3873052
rs764620460
256 P>S No ClinGen
ExAC
gnomAD
rs138362692
CA139214941
259 F>C No ClinGen
ESP
TOPMed
rs1273104306
CA364546479
260 L>H No ClinGen
gnomAD
rs754275488
CA3873053
262 F>L No ClinGen
ExAC
TOPMed
gnomAD
CA364546532
rs1281706704
265 K>M No ClinGen
TOPMed
CA364546538
rs1207532648
265 K>N No ClinGen
gnomAD
CA3873054
rs757637618
266 E>A No ClinGen
ExAC
gnomAD
CA3873055
rs779857438
266 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs1405634987
CA364546543
266 E>Q No ClinGen
gnomAD
CA139214947
rs148911832
267 E>K No ClinGen
ESP
TOPMed
CA3873056
rs746720509
270 K>T No ClinGen
ExAC
gnomAD
rs1304791024
CA364546601
271 H>R No ClinGen
gnomAD
CA364546623
rs1593147346
273 S>P No ClinGen
Ensembl
rs1381408316
CA364546640
275 K>E No ClinGen
gnomAD
TCGA novel 275 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3873058
rs529020409
275 K>R No ClinGen
1000Genomes
ExAC
gnomAD
rs1417057890
CA364546656
276 N>S No ClinGen
gnomAD
CA3873059
rs376832897
277 H>N No ClinGen
ESP
ExAC
gnomAD
CA3873060
rs769653349
277 H>Q No ClinGen
ExAC
gnomAD
rs941043876
CA139214956
278 F>L No ClinGen
TOPMed
CA139214960
rs1038403999
279 H>Y No ClinGen
Ensembl
CA139214962
rs201042363
280 Q>* No ClinGen
Ensembl
TCGA novel 281 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs749097667
CA3873063
283 K>I No ClinGen
ExAC
TOPMed
gnomAD
rs749097667
CA364546737
283 K>R No ClinGen
ExAC
TOPMed
gnomAD
CA364546744
rs1377721225
284 L>P No ClinGen
gnomAD
CA3873064
rs770649969
285 G>R No ClinGen
ExAC
gnomAD
rs1217963984
CA364546812
286 D>G No ClinGen
TOPMed
CA364546755
rs1339198588
286 D>N No ClinGen
gnomAD
rs1055997914
CA139215072
287 N>D No ClinGen
gnomAD
TCGA novel 288 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA139215075
rs893073843
290 I>V No ClinGen
Ensembl
CA364546872
rs1315217751
291 A>V No ClinGen
TOPMed
CA139215077
rs947265063
292 H>R No ClinGen
Ensembl
rs147004118
CA3873082
294 I>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs368454642
CA3873083
296 F>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA364546933
rs1197549982
298 S>P No ClinGen
gnomAD
rs778730443
CA3873086
299 F>L No ClinGen
ExAC
gnomAD
rs1440716953
CA364547015
304 L>F No ClinGen
TOPMed
rs775721788
CA3873089
304 L>S No ClinGen
ExAC
gnomAD
CA364547009
rs772204012
304 L>V No ClinGen
ExAC
gnomAD
CA139215098
rs375765094
306 S>C No ClinGen
ESP
TOPMed
CA139215096
rs946876495
306 S>T No ClinGen
TOPMed
CA364547056
rs1463852285
309 K>R No ClinGen
gnomAD
rs1450947637
CA364547075
311 V>I No ClinGen
TOPMed
rs199568648
CA3873091
314 Q>E No ClinGen
ExAC
gnomAD
CA364547115
rs776834899
315 V>I No ClinGen
ExAC
gnomAD
CA3873092
rs776834899
315 V>L No ClinGen
ExAC
gnomAD
rs762455868
CA3873093
316 K>N No ClinGen
ExAC
TOPMed
gnomAD
rs765805154
CA3873094
317 C>R No ClinGen
ExAC
TOPMed
gnomAD
rs750781344
CA3873095
318 V>G No ClinGen
ExAC
gnomAD
CA3873097
rs767093211
319 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA139215111
rs767093211
319 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA3873096
rs763330790
319 A>P No ClinGen
ExAC
gnomAD
CA364547181
rs1310278191
321 H>Y No ClinGen
gnomAD
CA364547193
rs1172714841
322 K>E No ClinGen
TOPMed
rs533185112
CA3873099
322 K>M No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3873100
rs777323404
324 L>P No ClinGen
ExAC
gnomAD
CA364547224
rs1196852296
325 R>C No ClinGen
gnomAD
COSM1445491
CA364547225
COSM1445492
rs754581391
325 R>H Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3873101
rs754581391
325 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs757228297
CA364547244
327 H>L No ClinGen
ExAC
TOPMed
gnomAD
rs757228297
CA3873102
327 H>P No ClinGen
ExAC
TOPMed
gnomAD
rs138156483
CA139215120
327 H>Q No ClinGen
ESP
rs1593148805
CA364547249
328 M>L No ClinGen
Ensembl
rs778771244
CA3873103
332 A>T No ClinGen
ExAC
gnomAD
rs745661590
CA3873104
333 H>R No ClinGen
ExAC
gnomAD
CA3873105
rs771832383
335 R>K No ClinGen
ExAC
gnomAD
CA3873129
rs748255103
337 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA3873130
rs769931045
COSM1080811
COSM1080810
339 R>* Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM192626
COSM3381643
CA3873131
rs536719366
339 R>Q Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3873136
rs141810606
346 V>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA139215986
rs937705849
351 I>T No ClinGen
Ensembl
CA3873137
rs186501264
352 T>A No ClinGen
1000Genomes
ExAC
gnomAD
CA3873138
rs761448054
356 E>D No ClinGen
ExAC
gnomAD
CA364548345
rs1158940615
358 F>C No ClinGen
gnomAD
rs1417679664
CA364548352
359 I>V No ClinGen
gnomAD
CA3873140
rs749879563
361 R>K No ClinGen
ExAC
gnomAD
CA364548381
rs758399871
362 G>R No ClinGen
ExAC
gnomAD
rs758399871
CA3873141
362 G>S No ClinGen
ExAC
gnomAD
CA364548411
rs1162575558
364 C>* No ClinGen
TOPMed
CA364548417
rs1224385335
365 P>L No ClinGen
gnomAD
rs41267683
CA3873142
368 N>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1252116732
CA364548463
369 Q>H No ClinGen
TOPMed
CA364548466
rs1351729778
370 V>I No ClinGen
gnomAD
rs574928676
CA364548525
375 T>I No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs574928676
CA3873146
375 T>N No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs756391609
CA3873147
376 S>G No ClinGen
ExAC
gnomAD
rs777962694
CA3873148
377 T>P No ClinGen
ExAC
TOPMed
gnomAD
CA3873150
rs372608790
379 N>K No ClinGen
ExAC
gnomAD
rs1178683656
CA364548565
379 N>S No ClinGen
gnomAD
CA3873151
rs376889187
380 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA364548609
rs1413696489
382 Q>* No ClinGen
gnomAD
CA364548608
rs1413696489
382 Q>E No ClinGen
gnomAD
rs1284403066
CA364548612
382 Q>P Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1361809233
CA364548629
383 N>K No ClinGen
TOPMed
CA364548641
CA3873152
rs746232960
385 G>R No ClinGen
ExAC
gnomAD
TCGA novel 386 H>Q Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1080813
rs772488651
COSM1080812
CA3873153
389 R>* Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
rs775815157
CA3873154
389 R>Q Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA364548712
rs1289823912
392 N>S No ClinGen
TOPMed
rs1374967513
CA364548727
394 V>M No ClinGen
gnomAD
CA364548758
rs1317579668
397 S>* No ClinGen
TOPMed
CA364548762
rs1317579668
397 S>L No ClinGen
TOPMed
CA139216006
rs900700742
399 L>S No ClinGen
TOPMed
CA364548788
rs1344816867
400 L>V No ClinGen
gnomAD
rs769299346
CA3873157
401 Y>C No ClinGen
ExAC
TOPMed
gnomAD
rs769299346
CA3873156
401 Y>F No ClinGen
ExAC
TOPMed
gnomAD
rs766351003
CA3873159
405 S>G No ClinGen
ExAC
gnomAD
CA3873161
rs200260002
406 E>K Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767478704
CA3873162
407 G>R No ClinGen
ExAC
gnomAD
CA3873163
rs752517774
408 N>D No ClinGen
ExAC
TOPMed
gnomAD
CA364548898
rs1246914708
408 N>K No ClinGen
gnomAD
CA139216015
rs901044185
409 K>Q No ClinGen
TOPMed
rs147182324
CA139216017
411 P>T No ClinGen
ESP
TOPMed
gnomAD
rs1426153601
CA364548949
412 S>F No ClinGen
gnomAD
CA364548986
rs1418657715
415 L>F No ClinGen
TOPMed
gnomAD
CA139216021
rs962682139
416 H>D No ClinGen
TOPMed
CA139216019
rs962682139
416 H>N No ClinGen
TOPMed
rs148325896
CA3873164
416 H>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA364548988
rs962682139
416 H>Y No ClinGen
TOPMed
rs1466022104
CA364548999
417 L>* No ClinGen
gnomAD
rs777822151
CA3873165
417 L>I No ClinGen
ExAC
gnomAD
rs753977367
CA3873166
422 S>* No ClinGen
ExAC
rs757215547
CA3873168
423 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA3873169
rs550734306
424 F>L No ClinGen
ExAC
gnomAD
CA139216024
rs1028248421
424 F>S No ClinGen
Ensembl
CA3873170
rs746428901
425 S>L No ClinGen
ExAC
gnomAD
CA3873171
rs772541645
426 S>A No ClinGen
ExAC
gnomAD
rs1272243377
CA364549110
427 L>F No ClinGen
TOPMed
gnomAD
CA3873172
rs780436186
430 T>N No ClinGen
ExAC
gnomAD
rs1315592431
CA364549159
431 M>I No ClinGen
gnomAD
rs1276852660
CA364549156
431 M>T No ClinGen
gnomAD
rs1214982167
CA364549167
432 S>P No ClinGen
gnomAD
CA364549178
rs1450634369
433 I>T No ClinGen
gnomAD
rs774758630
CA3873174
433 I>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 434 K>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
COSM1445494
COSM1445493
rs772680978
CA3873175
435 E>* Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs762531911
CA3873176
436 S>F No ClinGen
ExAC
gnomAD
CA364549227
rs1192922579
437 S>R No ClinGen
gnomAD
CA364549216
rs1478021817
437 S>R No ClinGen
TOPMed
gnomAD
rs1420051238
CA364549222
437 S>T No ClinGen
TOPMed
gnomAD
TCGA novel 440 E>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364549277
rs1302506404
442 I>T No ClinGen
TOPMed
gnomAD
rs141453646
CA139216026
443 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
NCI-TCGA
gnomAD
rs1163876337
CA364549301
445 P>S No ClinGen
gnomAD
rs1016295106
CA139216027
446 K>T No ClinGen
gnomAD
TCGA novel 448 K>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3873179
rs150829584
449 M>R No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs773986622
CA3873178
449 M>V No ClinGen
ExAC
gnomAD
rs373024721
CA3873181
453 D>G No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs767535656
CA3873180
453 D>H No ClinGen
ExAC
gnomAD
rs767535656
CA364549392
453 D>N No ClinGen
ExAC
gnomAD
rs1357869211
CA364549405
454 K>E No ClinGen
TOPMed
gnomAD
TCGA novel 455 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs575832302
CA3873182
456 H>Y No ClinGen
1000Genomes
ExAC
gnomAD
rs1284214182
CA364549445
458 G>S No ClinGen
gnomAD
rs1226322922
CA364549454
459 V>I No ClinGen
gnomAD
rs757485065
CA3873185
461 C>Y No ClinGen
ExAC
gnomAD
CA364549483
rs1215592330
462 V>I No ClinGen
gnomAD
CA364549582
rs1486584991
468 V>I No ClinGen
gnomAD
TCGA novel 471 T>P Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1386711581
CA364549698
473 F>L No ClinGen
TOPMed
rs914618760
CA139216028
473 F>L No ClinGen
TOPMed
CA364549712
rs1444193548
473 F>Y No ClinGen
gnomAD
CA3873187
rs545943589
474 C>R No ClinGen
1000Genomes
ExAC
gnomAD
CA3873188
rs758934788
477 N>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA3873189
rs377457807
479 R>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1039315855
CA139216029
COSM248576
479 R>Q prostate [Cosmic] No ClinGen
cosmic curated
TOPMed
CA3873191
rs190193043
482 S>N No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3873190
rs747412258
482 S>R No ClinGen
ExAC
gnomAD
CA139216031
rs144540861
483 E>V No ClinGen
ESP
rs528631156
CA3873192
484 D>H No ClinGen
1000Genomes
ExAC
gnomAD
CA3873193
rs748953620
484 D>V No ClinGen
ExAC
gnomAD
CA364549949
rs1377812294
487 E>K No ClinGen
gnomAD
rs1397051822
CA364549958
488 K>E No ClinGen
gnomAD
rs1339423393
CA364549979
489 H>P No ClinGen
gnomAD
CA364549976
rs1334076771
489 H>Y No ClinGen
gnomAD
CA364550033
rs1445137741
492 S>P No ClinGen
gnomAD
CA364550063
rs1239189461
493 A>E No ClinGen
gnomAD
CA364550060
rs1353929221
493 A>S No ClinGen
gnomAD
rs774045368
CA3873195
494 N>K No ClinGen
ExAC
gnomAD
CA3873196
rs745335830
495 T>A No ClinGen
ExAC
gnomAD
CA139216032
rs886570651
496 M>T No ClinGen
TOPMed
gnomAD
rs1440818697
CA364550121
497 G>D No ClinGen
TOPMed
gnomAD
rs1440818697
CA364550123
497 G>V No ClinGen
TOPMed
gnomAD
rs1241282789
CA364550144
499 K>I No ClinGen
TOPMed
gnomAD
rs1241282789
CA364550140
499 K>T No ClinGen
TOPMed
gnomAD
COSM1080821
rs1562621659
CA364550160
COSM1080820
500 C>R Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA3873199
rs760525627
503 C>Y No ClinGen
ExAC
gnomAD
rs761977174
CA3873202
505 K>N No ClinGen
ExAC
gnomAD
rs776460641
CA3873201
505 K>R No ClinGen
ExAC
gnomAD
CA139216034
rs982661541
506 V>I No ClinGen
Ensembl
COSM1166900
COSM1166899
CA139216035
rs866345731
510 S>* ovary [Cosmic] No ClinGen
cosmic curated
Ensembl
rs750523166
CA3873204
514 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs750523166
CA364550410
514 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs113698145
CA139216036
516 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs766874871
CA3873206
517 M>R No ClinGen
ExAC
gnomAD
CA364550451
rs1377204638
517 M>V No ClinGen
gnomAD
rs140160169
CA3873208
519 R>Q No ClinGen
ESP
ExAC
gnomAD
COSM1445496
rs752074538
COSM1445495
CA3873207
519 R>W large_intestine [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA364550525
rs1233679294
521 H>N Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA364550527
rs1233679294
521 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs1292970801
CA364550598
524 A>V No ClinGen
TOPMed
rs1381361024
CA364550610
526 L>V No ClinGen
TOPMed
CA3873210
rs748515240
527 N>D No ClinGen
ExAC
gnomAD
rs757004838
CA3873211
530 L>F No ClinGen
ExAC
gnomAD
rs757004838
CA364550677
530 L>V No ClinGen
ExAC
gnomAD
CA364550686
rs1457366972
531 F>I No ClinGen
gnomAD
CA139216037
rs139462025
532 W>S No ClinGen
1000Genomes
rs1255094111
CA364550738
534 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA139216038
rs938286631
534 R>W No ClinGen
TOPMed
gnomAD
rs778664155
CA3873212
535 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs1177046398
CA364550771
536 C>W No ClinGen
gnomAD
rs1376458635
CA364550781
537 K>* No ClinGen
gnomAD
rs1463930298
CA364550788
537 K>R No ClinGen
gnomAD
CA3873215
rs775048776
COSM327554
542 R>G haematopoietic_and_lymphoid_tissue [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
rs746965156
CA3873216
543 K>E No ClinGen
ExAC
gnomAD
CA364550903
rs1440101192
544 D>G No ClinGen
TOPMed
gnomAD
CA3873218
rs776317444
546 I>L No ClinGen
ExAC
TOPMed
gnomAD
CA3873219
rs776317444
546 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs765458443
CA3873220
547 M>T No ClinGen
ExAC
gnomAD
rs1329276044
CA567638795
548 A>FIF* No ClinGen
gnomAD
CA3873221
rs773354686
552 E>K No ClinGen
ExAC
gnomAD
CA3873222
rs763155970
554 H>R No ClinGen
ExAC
gnomAD
rs1278749118
CA364551046
554 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA3873223
rs766505335
555 N>S No ClinGen
ExAC
TOPMed
gnomAD
CA3873224
rs1162629689
557 H>Q No ClinGen
gnomAD
rs1243761643
CA364551143
561 Y>C No ClinGen
TOPMed
rs1265632702
CA364551151
562 E>G No ClinGen
gnomAD
CA364551161
rs1460339599
563 M>K No ClinGen
TOPMed
rs1022564415
CA139216039
563 M>V No ClinGen
TOPMed
rs752210437
CA3873227
565 E>K No ClinGen
ExAC
TOPMed
gnomAD
CA3873228
rs755477885
566 V>I No ClinGen
ExAC
gnomAD
rs914943929
CA139216040
568 G>D No ClinGen
TOPMed
CA139216041
rs914943929
568 G>V No ClinGen
TOPMed
CA3873229
rs768029397
573 S>P No ClinGen
ExAC
rs1477234074
CA364551289
574 S>F No ClinGen
gnomAD
CA3873230
rs753029091
575 S>C No ClinGen
ExAC
gnomAD
COSM1187071
COSM1187072
CA139216042
rs753029091
575 S>F lung [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
CA139216043
rs758274630
576 T>A No ClinGen
Ensembl
rs145797539
CA3873231
577 T>A No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs778715384
CA3873232
577 T>I No ClinGen
ExAC
TOPMed
gnomAD
CA364551332
rs1562622073
580 N>D No ClinGen
Ensembl
CA364551359
rs1443904280
582 T>S No ClinGen
gnomAD
rs1593157700
CA364551390
585 K>N No ClinGen
Ensembl
CA364551395
rs1401590345
586 P>S No ClinGen
gnomAD
rs758097833
CA3873234
587 S>L No ClinGen
ExAC
CA364551432
rs1562622105
589 A>S No ClinGen
Ensembl
CA3873236
rs149062647
591 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA364551472
rs1216895309
593 I>T No ClinGen
gnomAD
CA364551510
rs1329435643
596 S>T No ClinGen
TOPMed
CA3873238
rs149876604
597 P>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3873239
rs149876604
597 P>Q No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772980004
CA3873241
598 A>T No ClinGen
ExAC
gnomAD
rs763213287
CA3873242
601 S>T No ClinGen
ExAC
gnomAD
rs199784598
CA3873243
602 P>L Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3873244
rs199784598
602 P>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs757083594
CA3873246
603 R>G No ClinGen
ExAC
gnomAD
rs1442833561
CA364551583
603 R>S No ClinGen
TOPMed
rs753184680
CA3873247
604 G>V No ClinGen
ExAC
gnomAD
TCGA novel 609 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs764599634
CA3873249
609 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs761262408
CA3873248
609 R>W No ClinGen
ExAC
TOPMed
gnomAD
CA364551710
rs1421317471
613 D>A No ClinGen
gnomAD
CA3873250
rs754222139
614 M>T No ClinGen
ExAC
TOPMed
gnomAD
rs1359841031
CA364551750
616 D>G No ClinGen
gnomAD
rs758150902
CA364551763
617 S>C No ClinGen
ExAC
gnomAD
CA3873251
rs758150902
617 S>F No ClinGen
ExAC
gnomAD
CA364551765
rs1304513121
618 Q>* No ClinGen
gnomAD
CA3873254
rs754443969
620 Y>* No ClinGen
ExAC
gnomAD
rs567926496
CA3873253
620 Y>C No ClinGen
1000Genomes
ExAC
gnomAD
rs1593157930
CA364551807
621 V>E No ClinGen
Ensembl
rs780561536
CA3873255
623 Q>P No ClinGen
ExAC
TOPMed
gnomAD
rs780561536
CA3873256
623 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs1359663351
CA364551846
624 H>R No ClinGen
TOPMed
CA364551843
rs1230590824
624 H>Y No ClinGen
gnomAD
rs1016860337
CA139216045
626 M>R No ClinGen
TOPMed
rs1593157962
CA364551889
628 L>W No ClinGen
Ensembl
CA3873258
rs777586683
629 A>E No ClinGen
ExAC
gnomAD
COSM743429
COSM743428
rs1212928635
CA364551913
630 S>T lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
gnomAD
CA3873259
rs749043131
631 H>R No ClinGen
ExAC
TOPMed
gnomAD
rs1483311935
CA364551930
632 K>E No ClinGen
TOPMed
gnomAD
CA364551934
rs1180728124
632 K>R No ClinGen
gnomAD
rs151150457
CA3873261
634 H>Q No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA364551962
rs1240908005
634 H>R No ClinGen
TOPMed
gnomAD
rs1159032406
CA364551971
635 R>T No ClinGen
gnomAD
rs772263635
CA3873263
636 Y>C No ClinGen
ExAC
gnomAD
rs1458330144
CA364552036
640 H>Q No ClinGen
gnomAD
CA364552052
rs1367236209
642 R>G No ClinGen
TOPMed
rs993465286
CA139216046
643 K>R No ClinGen
Ensembl
CA3873265
rs761301182
644 P>R No ClinGen
ExAC
gnomAD
CA364552090
rs1305125483
645 F>L No ClinGen
TOPMed
rs570671224
CA364552099
646 H>L No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs570671224
CA3873266
646 H>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs754273423
CA3873267
647 K>T No ClinGen
ExAC
gnomAD
rs368682577
CA3873268
648 I>L No ClinGen
ESP
ExAC
gnomAD
CA364552120
rs140090111
648 I>R No ClinGen
ESP
ExAC
gnomAD
CA3873269
rs140090111
648 I>T No ClinGen
ESP
ExAC
gnomAD
CA3873271
rs751290303
651 L>F No ClinGen
ExAC
gnomAD
TCGA novel 652 Y>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3873272
rs201607988
COSM1080824
COSM1080825
653 R>* endometrium [Cosmic] No ClinGen
cosmic curated
ExAC
gnomAD
TCGA novel 653 R>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1471428184
COSM192630
CA364552170
653 R>Q large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
NCI-TCGA
TOPMed
rs377329071
CA139216048
654 H>R No ClinGen
gnomAD
rs1260633759
CA364552218
657 D>G No ClinGen
gnomAD
rs371313272
CA3873274
658 E>K No ClinGen
ESP
ExAC
gnomAD
rs1562622476
CA364552244
659 H>P No ClinGen
Ensembl
CA364552266
rs1178934648
661 N>S No ClinGen
gnomAD
rs756076400
CA3873275
665 I>S No ClinGen
ExAC
TOPMed
gnomAD
rs756076400
CA3873276
665 I>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3873278
rs757014314
666 K>N No ClinGen
ExAC
gnomAD
rs1425815764
CA364552339
667 Y>C No ClinGen
gnomAD
TCGA novel 668 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364552357
rs778571187
669 C>S No ClinGen
ExAC
gnomAD
CA3873279
rs778571187
669 C>Y No ClinGen
ExAC
gnomAD
rs746162663
CA3873280
672 C>R No ClinGen
ExAC
gnomAD
rs1330979778
CA364552388
672 C>W No ClinGen
gnomAD
rs772150670
CA364552397
673 D>G No ClinGen
ExAC
gnomAD
CA3873281
rs772150670
673 D>V No ClinGen
ExAC
gnomAD
CA3873282
rs41267685
674 L>H No ClinGen
ExAC
gnomAD
CA139216049
rs41267685
674 L>P No ClinGen
ExAC
gnomAD
CA3873283
rs747032867
675 I>M No ClinGen
ExAC
gnomAD
CA364552416
rs1275748695
675 I>T No ClinGen
gnomAD
rs1490600407
CA364552423
676 F>V No ClinGen
TOPMed
rs199653076
CA139216051
677 N>D No ClinGen
TOPMed
CA139216050
rs199653076
677 N>H No ClinGen
TOPMed
rs750386359
CA3873285
677 N>K No ClinGen
ExAC
gnomAD
rs762222395
CA3873286
678 V>M No ClinGen
ExAC
TOPMed
gnomAD
CA364552450
rs1198694330
679 E>K No ClinGen
gnomAD
rs765689212
CA3873287
681 A>T No ClinGen
ExAC
gnomAD
rs908078533
CA139216052
685 H>R No ClinGen
TOPMed
gnomAD
CA364552524
rs1488026674
685 H>Y No ClinGen
gnomAD
CA364552541
rs1400582543
686 Y>* No ClinGen
gnomAD
rs374345899
CA139216053
686 Y>F No ClinGen
ESP
gnomAD
rs1478207346
CA364552545
COSM345855
687 E>K lung [Cosmic] No ClinGen
cosmic curated
gnomAD
CA364552573
rs1347962797
689 H>Y No ClinGen
TOPMed
CA364552587
rs1417649879
690 H>R No ClinGen
TOPMed
gnomAD
rs1407225149
CA364552600
691 S>N No ClinGen
gnomAD
rs201692867
CA3873292
692 I>T No ClinGen
1000Genomes
ExAC
gnomAD
CA3873296
rs142225106
701 T>A Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
gnomAD
TCGA novel 701 T>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3873298
rs757131731
702 E>A No ClinGen
ExAC
gnomAD
rs778821123
CA364552729
702 E>D No ClinGen
ExAC
gnomAD
rs989728712
CA139216056
703 T>A No ClinGen
gnomAD
CA364552751
rs1219927394
705 I>V No ClinGen
TOPMed
gnomAD
rs915453040
CA139216057
707 T>I No ClinGen
TOPMed
CA3873301
rs758667701
708 E>* No ClinGen
ExAC
gnomAD
CA364552791
rs1402479944
708 E>D No ClinGen
TOPMed
CA364552781
COSM1080828
COSM1080829
rs758667701
708 E>K Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs780361075
CA3873302
709 D>G No ClinGen
ExAC
gnomAD
CA364552796
rs1193044567
709 D>Y No ClinGen
gnomAD
CA3873303
rs769945106
714 I>V No ClinGen
ExAC
TOPMed
gnomAD
rs1413311332
CA364552863
715 E>D No ClinGen
gnomAD
CA364552870
rs1423168443
716 T>A No ClinGen
gnomAD
rs768923696
CA3873304
716 T>I No ClinGen
ExAC
gnomAD
rs1361750339
CA364552892
718 N>S No ClinGen
TOPMed
gnomAD
rs776836375
CA3873305
719 Q>H No ClinGen
ExAC
gnomAD
CA364552903
rs1399864666
719 Q>R No ClinGen
gnomAD
CA3873306
rs748736350
720 L>F No ClinGen
ExAC
gnomAD
rs770170257
CA3873307
721 T>I No ClinGen
ExAC
gnomAD
CA3873309
rs763179362
722 C>S No ClinGen
ExAC
gnomAD
CA139216058
rs138569911
724 C>R No ClinGen
ESP
TOPMed
CA3873310
rs767171327
725 R>C No ClinGen
ExAC
gnomAD
rs142125848
CA3873313
725 R>H No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142125848
CA3873311
725 R>L No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142125848
CA3873312
725 R>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA364552974
rs1282042644
726 E>D No ClinGen
gnomAD
CA3873314
rs749488628
727 S>R No ClinGen
ExAC
gnomAD
rs1562622965
CA567638809
728 Y>* No ClinGen
Ensembl
CA364552987
rs1562622953
728 Y>H No ClinGen
Ensembl
CA364552986
rs1562622953
728 Y>N No ClinGen
Ensembl
CA3873316
rs765033825
730 C>Y No ClinGen
ExAC
TOPMed
gnomAD
rs377069766
CA364553035
731 K>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA364553036
rs1204216064
732 V>I No ClinGen
TOPMed
rs1318678406
CA364553078
735 K>R No ClinGen
gnomAD
rs1157379657
CA364553088
736 E>A No ClinGen
gnomAD
CA364553108
rs1404928885
737 D>E No ClinGen
gnomAD
rs1362433681
CA364553125
739 S>G No ClinGen
TOPMed
rs113779833
CA139216060
741 C>R No ClinGen
Ensembl
rs1200139580
CA364553157
741 C>W No ClinGen
gnomAD
rs1002785119
CA139216061
742 L>V No ClinGen
TOPMed
gnomAD
rs779990395
CA3873319
743 Q>H No ClinGen
ExAC
gnomAD
CA364553174
rs1334175834
743 Q>R No ClinGen
gnomAD
CA3873320
rs369706106
745 M>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA364553220
rs1377431953
747 D>A No ClinGen
gnomAD
CA364553224
rs1377431953
747 D>G No ClinGen
gnomAD
CA3873322
rs781460597
749 G>A No ClinGen
ExAC
rs1258928376
CA364553257
750 K>Q No ClinGen
gnomAD
rs770356504
CA3873324
750 K>R No ClinGen
ExAC
gnomAD
rs144722180
CA3873326
751 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1320046420
CA364553297
753 F>C No ClinGen
TOPMed
rs575508843
COSM1445504
COSM1445505
CA3873328
754 R>C large_intestine [Cosmic] No ClinGen
cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs536968776
CA3873329
754 R>H No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs372459471
CA3873330
759 S>* No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA364553386
rs372459471
759 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA364553396
COSM3411228
COSM3411227
rs1562623156
761 T>A Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
Ensembl
NCI-TCGA
CA3873333
rs573417881
763 Q>P No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs573417881
CA3873332
763 Q>R No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA3873334
rs180936685
764 N>Y No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1010497904
CA139216064
767 D>G No ClinGen
TOPMed
CA3873337
rs766325841
767 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1246865758
CA364553464
768 M>T No ClinGen
TOPMed
CA139216065
rs774776763
768 M>V No ClinGen
gnomAD
CA139216066
rs528304999
769 N>S No ClinGen
Ensembl
rs1390628451
CA364553484
770 T>A No ClinGen
gnomAD
CA364553544
rs1304531177
774 Q>E No ClinGen
gnomAD
rs781222649
CA3873343
775 V>L No ClinGen
ExAC
TOPMed
gnomAD
CA3873344
rs752837583
777 K>E No ClinGen
ExAC
gnomAD
rs756082382
CA3873345
777 K>R No ClinGen
ExAC
gnomAD
rs777907661
CA3873346
778 E>G No ClinGen
ExAC
gnomAD
TCGA novel 780 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771410159
CA3873349
782 E>D No ClinGen
ExAC
gnomAD
rs749820632
CA3873348
782 E>K No ClinGen
ExAC
gnomAD
rs548274283
CA3873351
783 E>K No ClinGen
ExAC
gnomAD
CA364553678
rs989573052
785 Q>* No ClinGen
TOPMed
gnomAD
CA139216067
rs989573052
785 Q>E No ClinGen
TOPMed
gnomAD
CA364553698
rs1452536034
786 Q>H No ClinGen
gnomAD
CA3873352
rs768306565
788 V>A No ClinGen
ExAC
gnomAD
rs1198836056
CA364553709
788 V>I No ClinGen
gnomAD
CA3873353
rs776077881
789 I>M No ClinGen
ExAC
gnomAD
CA139216068
rs759755362
791 C>F No ClinGen
TOPMed
rs761519049
CA3873356
793 T>I No ClinGen
ExAC
gnomAD
rs761519049
CA364553767
793 T>N No ClinGen
ExAC
gnomAD
TCGA novel 795 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364553793
rs1296093734
796 K>E No ClinGen
gnomAD
rs148099892
CA3873357
796 K>N No ClinGen
ESP
ExAC
rs1340369657
CA364553811
798 F>I No ClinGen
TOPMed
rs763023825
CA3873359
800 D>G No ClinGen
ExAC
gnomAD
CA3873360
rs766378790
801 P>A No ClinGen
ExAC
gnomAD
CA3873361
rs774311507
801 P>L No ClinGen
ExAC
gnomAD
rs1453421175
CA364553862
802 E>D No ClinGen
TOPMed
CA3873363
rs767785912
807 H>R No ClinGen
ExAC
gnomAD
CA364553935
rs1423792244
809 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs752930825
CA3873364
810 R>T No ClinGen
ExAC
gnomAD
CA364553976
rs1357543076
812 H>R No ClinGen
gnomAD
rs1267432258
CA364553971
812 H>Y No ClinGen
gnomAD
CA3873365
rs201540741
813 C>S No ClinGen
ExAC
TOPMed
gnomAD
CA3873366
rs11965942
816 Q>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA364554038
rs1355475185
818 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
TCGA novel 819 S>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364554049
rs1489524441
819 S>N No ClinGen
gnomAD
CA3873367
rs544459461
821 A>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1261906884
CA364554073
821 A>V No ClinGen
gnomAD
rs142771940
CA3873368
823 F>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3873369
rs779331544
828 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA364554137
rs1167945328
828 S>P No ClinGen
gnomAD
rs147711007
CA3873370
829 N>K No ClinGen
1000Genomes
ExAC
gnomAD
rs780449965
CA3873372
831 Y>C No ClinGen
ExAC
gnomAD
CA364554166
rs1363640066
831 Y>H No ClinGen
gnomAD
CA3873374
rs372487830
832 K>M No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA3873373
rs372487830
832 K>R No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 835 A>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1181139629
CA364554213
835 A>V No ClinGen
TOPMed
CA139216071
rs775931401
836 S>G No ClinGen
TOPMed
CA3873376
rs748759987
837 A>T No ClinGen
ExAC
gnomAD
rs1315145972
COSM1312332
COSM1312333
CA364554237
838 S>L Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
NCI-TCGA
gnomAD
rs377081844
CA3873377
839 H>D No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA364554241
rs377081844
839 H>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1202236851
CA364554256
840 T>I No ClinGen
TOPMed
rs774366708
CA3873378
842 R>G No ClinGen
ExAC
gnomAD
CA3873379
rs759542524
842 R>I No ClinGen
ExAC
gnomAD
rs759542524
CA3873380
842 R>K No ClinGen
ExAC
gnomAD
CA3873381
rs775335373
845 K>T No ClinGen
ExAC
gnomAD
rs1341239240
CA364554317
846 Q>* No ClinGen
TOPMed
rs764340561
CA3873383
846 Q>H No ClinGen
ExAC
TOPMed
gnomAD
CA3873382
rs760850598
846 Q>R No ClinGen
ExAC
gnomAD
rs760210216
CA139216072
847 A>E No ClinGen
gnomAD
rs1485284224
CA364554325
847 A>T No ClinGen
TOPMed
gnomAD
rs753925147
CA3873384
848 I>V No ClinGen
ExAC
gnomAD
CA364554411
rs1562623717
854 L>* No ClinGen
Ensembl
CA3873387
rs568184453
856 M>I No ClinGen
ExAC
TOPMed
gnomAD
CA3873386
rs146045454
856 M>V No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3873388
rs758915643
857 E>G No ClinGen
ExAC
gnomAD
rs908135255
CA139216073
859 G>E No ClinGen
TOPMed
CA3873390
rs747359026
860 V>A No ClinGen
ExAC
CA139216075
rs973984150
860 V>I No ClinGen
TOPMed
CA139216076
rs771295192
861 E>A No ClinGen
Ensembl
CA139216077
rs201897409
863 D>V No ClinGen
1000Genomes
CA3873392
rs547169069
864 L>I No ClinGen
ExAC
gnomAD
rs1451752641
CA364554557
865 S>R No ClinGen
gnomAD
rs748813060
CA3873393
866 Y>C No ClinGen
ExAC
gnomAD
CA364554568
rs1300230580
867 Q>E No ClinGen
TOPMed
CA364554606
rs1452280080
869 I>M No ClinGen
gnomAD
CA364554595
rs1380172742
869 I>V No ClinGen
gnomAD
CA364555335
rs1479528675
871 E>K No ClinGen
gnomAD
rs778609172
CA3873412
873 I>M No ClinGen
ExAC
gnomAD
rs756951348
CA3873411
873 I>T No ClinGen
ExAC
gnomAD
rs369765059
CA3873415
883 R>* No ClinGen
ESP
ExAC
gnomAD
CA3873416
rs746911982
883 R>Q No ClinGen
ExAC
gnomAD
rs768494650
CA3873417
884 T>I No ClinGen
ExAC
gnomAD
CA3873419
rs762061803
885 M>T No ClinGen
ExAC
gnomAD
CA3873418
rs776384929
885 M>V No ClinGen
ExAC
gnomAD
rs773302801
CA3873422
887 H>P No ClinGen
ExAC
gnomAD
rs769962420
CA3873421
887 H>Y No ClinGen
ExAC
gnomAD
CA3873423
rs763031375
889 V>L No ClinGen
ExAC
gnomAD
rs1319382155
CA364555550
891 V>A No ClinGen
gnomAD
CA139216256
rs374553546
893 F>S No ClinGen
ESP
CA3873425
rs752177088
894 D>E No ClinGen
ExAC
gnomAD
rs766801816
CA3873424
894 D>G No ClinGen
ExAC
gnomAD
rs759948147
CA3873426
896 W>L No ClinGen
ExAC
gnomAD
rs551604732
CA139216257
897 S>A No ClinGen
1000Genomes
rs1032750304
CA139216258
898 N>D No ClinGen
TOPMed
rs1223448836
CA364555637
899 F>C No ClinGen
gnomAD
TCGA novel 899 F>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 901 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs753083511
CA3873428
901 G>R No ClinGen
ExAC
gnomAD
CA3873429
rs757004583
902 H>Y No ClinGen
ExAC
TOPMed
gnomAD
CA3873430
rs778664166
906 H>Y No ClinGen
ExAC
gnomAD
CA364555713
rs1180657046
907 L>V No ClinGen
TOPMed
CA364555730
rs1216966966
908 N>K No ClinGen
Ensembl
CA364555803
rs1451610307
915 G>D No ClinGen
TOPMed
TCGA novel 916 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA3873460
rs140191429
921 T>N No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3873461
rs140191429
921 T>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA3873462
rs771028745
922 N>S No ClinGen
ExAC
TOPMed
gnomAD
rs745897452
CA3873464
925 P>L No ClinGen
ExAC
gnomAD
rs548892859
CA3873466
COSM1445506
COSM1445507
926 P>L large_intestine Variant assessed as Somatic; 4.627e-05 impact. [Cosmic, NCI-TCGA] No ClinGen
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA3873465
rs536946478
926 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs536946478
CA364555997
926 P>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA139216417
rs1018246491
928 N>K No ClinGen
TOPMed
rs764565295
CA3873468
COSM1080840
929 C>Y Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] No ClinGen
cosmic curated
ExAC
NCI-TCGA
gnomAD
CA364556067
rs1271723155
932 Y>H No ClinGen
TOPMed
CA139216418
rs966021116
934 Y>* No ClinGen
TOPMed
gnomAD
rs1562626037
CA364556101
934 Y>C No ClinGen
Ensembl
rs762695647
CA3873470
935 L>R No ClinGen
ExAC
gnomAD
CA139216419
rs867616944
936 N>D No ClinGen
Ensembl
rs370642583
CA3873471
938 I>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA364556150
rs1277678729
940 C>R No ClinGen
gnomAD
rs751092108
CA3873472
941 F>C No ClinGen
ExAC
gnomAD
CA364556211
rs1317093955
945 P>S No ClinGen
TOPMed
CA3873473
rs376330274
946 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767010001
CA3873474
946 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs752690620
CA3873475
947 C>R No ClinGen
ExAC
gnomAD
CA3873476
rs756025028
947 C>Y No ClinGen
ExAC
gnomAD
rs777665460
CA3873477
948 S>G No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 948 S>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1180332472
CA364556326
954 A>G No ClinGen
gnomAD
TCGA novel 955 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778947711
CA3873480
956 F>S No ClinGen
ExAC
gnomAD
CA364556363
rs1176443107
958 I>V No ClinGen
gnomAD
CA364556370
rs1443087997
959 C>R No ClinGen
TOPMed
CA3873481
rs745953389
960 M>V No ClinGen
ExAC
gnomAD
TCGA novel 961 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364556998
rs1425299598
962 A>P No ClinGen
gnomAD
rs377097266
CA139216566
964 R>C No ClinGen
ESP
ExAC
gnomAD
rs377097266
CA3873498
964 R>G No ClinGen
ESP
ExAC
gnomAD
CA3873499
rs750718545
964 R>H No ClinGen
ExAC
gnomAD
rs750718545
CA364557024
964 R>L No ClinGen
ExAC
gnomAD
CA3873500
rs758659256
966 D>G No ClinGen
ExAC
gnomAD
TCGA novel 968 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1294489955
CA364557097
971 K>N No ClinGen
gnomAD
rs780309744
CA3873501
971 K>R No ClinGen
ExAC
gnomAD
CA364557119
rs1307712429
974 P>A No ClinGen
TOPMed
CA364557149
rs1286667347
977 I>L No ClinGen
gnomAD
CA364557158
rs1360599761
978 L>F No ClinGen
gnomAD
TCGA novel 991 F>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs769390785
CA139216567
992 K>N No ClinGen
Ensembl
CA364557355
rs1487238002
995 Q>* No ClinGen
gnomAD
rs781484483
CA3873505
998 A>G No ClinGen
ExAC
gnomAD
rs781484483
CA3873504
998 A>V No ClinGen
ExAC
gnomAD
rs1427489333
CA364557404
999 H>Y Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1186279892
CA364557415
1000 I>V No ClinGen
gnomAD
rs770114723
CA3873506
1001 L>P No ClinGen
ExAC
gnomAD
rs908651102
CA139216568
1003 P>R No ClinGen
TOPMed
CA364557459
rs1444980304
1004 H>Y No ClinGen
gnomAD
rs368630821
CA3873507
1009 D>G No ClinGen
ESP
ExAC
gnomAD
CA364557542
rs1384755331
1010 M>I No ClinGen
TOPMed
rs142208880
CA3873509
1010 M>L No ClinGen
ESP
ExAC
gnomAD
CA3873512
rs760048318
1010 M>R No ClinGen
ExAC
gnomAD
CA3873511
rs760048318
1010 M>T No ClinGen
ExAC
gnomAD
rs142208880
CA3873510
1010 M>V No ClinGen
ESP
ExAC
gnomAD
TCGA novel 1013 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1380800708
CA364557582
1014 L>S No ClinGen
gnomAD
rs1280202125
CA364557598
1016 N>H No ClinGen
Ensembl
rs777130057
CA139216569
1016 N>S No ClinGen
gnomAD
CA364557611
rs1245652711
1017 S>G No ClinGen
gnomAD
rs753789328
CA3873513
1017 S>R No ClinGen
ExAC
gnomAD
rs1268913156
CA364557632
1018 I>M No ClinGen
TOPMed
gnomAD
CA3873514
rs761784331
1018 I>V No ClinGen
ExAC
gnomAD
rs1378339822
CA364557642
1020 D>N No ClinGen
TOPMed
CA3873516
rs765159801
1021 T>I No ClinGen
ExAC
gnomAD
rs967897082
CA139216570
1023 K>R No ClinGen
gnomAD
CA139217452
rs370876994
1024 E>D No ClinGen
ExAC
TOPMed
gnomAD
CA364557881
rs1233271970
1027 S>N No ClinGen
TOPMed
CA364557899
rs1393035757
1029 D>E No ClinGen
gnomAD
CA139217453
rs955492101
1029 D>N No ClinGen
TOPMed
CA364557912
rs1248489894
1031 M>K No ClinGen
TOPMed
rs779241591
CA3873548
1032 G>D No ClinGen
ExAC
gnomAD
rs757672265
CA364557918
1032 G>R No ClinGen
ExAC
gnomAD
CA3873547
rs757672265
1032 G>S No ClinGen
ExAC
gnomAD
rs746693271
CA3873549
1033 A>V No ClinGen
ExAC
gnomAD
TCGA novel 1035 N>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA139217455
rs1036189789
1037 S>L No ClinGen
TOPMed
gnomAD
COSM3662666
COSM3662667
CA364557951
rs1275544612
1037 S>T liver [Cosmic] No ClinGen
cosmic curated
TOPMed
rs369633939
CA139217457
1038 I>V No ClinGen
ESP
TOPMed
gnomAD
CA364557976
rs1374874562
1041 E>* No ClinGen
gnomAD
rs1201500301
CA364558000
1044 S>C No ClinGen
gnomAD
rs1481995507
CA364557998
1044 S>P No ClinGen
gnomAD
CA3873554
rs776038993
1045 T>A No ClinGen
ExAC
gnomAD
rs962754068
CA139217458
1045 T>I No ClinGen
TOPMed
gnomAD
CA3873569
rs767738504
1047 D>E No ClinGen
ExAC
gnomAD
TCGA novel 1053 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA364619692
rs1475901287
1054 I>F Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA364619716
rs1593183405
1057 S>T No ClinGen
Ensembl
rs935757045
CA364619719
1058 L>I No ClinGen
gnomAD
rs935757045
CA139733918
1058 L>V No ClinGen
gnomAD
CA364619724
rs1164808535
1059 E>K No ClinGen
gnomAD
CA364619743
rs892317423
1061 M>K No ClinGen
TOPMed
gnomAD
CA139733919
rs892317423
1061 M>T No ClinGen
TOPMed
gnomAD

No associated diseases with Q9Y4E5

No regional properties for Q9Y4E5

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q9Y4E5

Functions

Description
EC Number
Subcellular Localization
  • Nucleus
  • Nucleus, PML body
  • Nucleus, nucleoplasm
  • Colocalizes with UBE2I/UBC9, SUMO1 and SUMO2 in nuclear granules; this probably requires sumoylation
  • Desumoylation leads to diffuse nucleoplasmic location
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
PML body A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection.

3 GO annotations of molecular function

Name Definition
metal ion binding Binding to a metal ion.
SUMO ligase activity Catalysis of the transfer of SUMO to a substrate protein via the reaction X-SUMO + S --> X + S-SUMO, where X is either an E2 or E3 enzyme, the X-SUMO linkage is a thioester bond, and the S-SUMO linkage is an isopeptide bond between the C-terminal amino acid of SUMO and the epsilon-amino group of lysine residues in the substrate.
transcription corepressor activity A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators.

6 GO annotations of biological process

Name Definition
negative regulation of histone H3-K9 acetylation Any process that stops, prevents or reduces the frequency, rate or extent of histone H3-K9 acetylation.
negative regulation of transcription initiation by RNA polymerase II Any process that decreases the rate, frequency or extent of a process involved in starting transcription from an RNA polymerase II promoter.
negative regulation of transforming growth factor beta receptor signaling pathway Any process that stops, prevents, or reduces the frequency, rate or extent of any TGF-beta receptor signaling pathway.
positive regulation of transcription by RNA polymerase II Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter.
protein sumoylation The process in which a SUMO protein (small ubiquitin-related modifier) is conjugated to a target protein via an isopeptide bond between the carboxy-terminus of SUMO with an epsilon-amino group of a lysine residue of the target protein.
regulation of gene expression Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).

177 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q08DS3 OSR1 Protein odd-skipped-related 1 Bos taurus (Bovine) PR
Q2VWH6 FEZF2 Fez family zinc finger protein 2 Bos taurus (Bovine) PR
A6QNZ0 ZSCAN26 Zinc finger and SCAN domain-containing protein 26 Bos taurus (Bovine) PR
A7MBI1 ZFP69 Zinc finger protein 69 homolog Bos taurus (Bovine) PR
Q08705 CTCF Transcriptional repressor CTCF Gallus gallus (Chicken) PR
O42409 GFI1B Zinc finger protein Gfi-1b Gallus gallus (Chicken) PR
A2T6W2 ZNF449 Zinc finger protein 449 Pan troglodytes (Chimpanzee) PR
Q9U405 grau Transcription factor grauzone Drosophila melanogaster (Fruit fly) PR
Q7K0S9 sug Zinc finger protein GLIS2 homolog Drosophila melanogaster (Fruit fly) PR
P20385 Cf2 Chorion transcription factor Cf2 Drosophila melanogaster (Fruit fly) PR
Q86P48 ATbp AT-rich binding protein Drosophila melanogaster (Fruit fly) PR
P28698 MZF1 Myeloid zinc finger 1 Homo sapiens (Human) PR
Q9NTW7 ZFP64 Zinc finger protein 64 Homo sapiens (Human) PR
O14978 ZNF263 Zinc finger protein 263 Homo sapiens (Human) PR
O60304 ZNF500 Zinc finger protein 500 Homo sapiens (Human) PR
P08151 GLI1 Zinc finger protein GLI1 Homo sapiens (Human) PR
Q9UFB7 ZBTB47 Zinc finger and BTB domain-containing protein 47 Homo sapiens (Human) PR
P18146 EGR1 Early growth response protein 1 Homo sapiens (Human) PR
Q9Y5W3 KLF2 Krueppel-like factor 2 Homo sapiens (Human) PR
Q9UNY5 ZNF232 Zinc finger protein 232 Homo sapiens (Human) PR
Q96SZ4 ZSCAN10 Zinc finger and SCAN domain-containing protein 10 Homo sapiens (Human) PR
P17028 ZNF24 Zinc finger protein 24 Homo sapiens (Human) PR
P57682 KLF3 Krueppel-like factor 3 Homo sapiens (Human) PR
P25490 YY1 Transcriptional repressor protein YY1 Homo sapiens (Human) SS
O43296 ZNF264 Zinc finger protein 264 Homo sapiens (Human) PR
P49711 CTCF Transcriptional repressor CTCF Homo sapiens (Human) PR
Q9NQX1 PRDM5 PR domain zinc finger protein 5 Homo sapiens (Human) PR
Q9HBE1 PATZ1 POZ-, AT hook-, and zinc finger-containing protein 1 Homo sapiens (Human) PR
Q8TAX0 OSR1 Protein odd-skipped-related 1 Homo sapiens (Human) PR
Q9UL58 ZNF215 Zinc finger protein 215 Homo sapiens (Human) PR
Q8TBJ5 FEZF2 Fez family zinc finger protein 2 Homo sapiens (Human) PR
Q96SR6 ZNF382 Zinc finger protein 382 Homo sapiens (Human) PR
Q96IT1 ZNF496 Zinc finger protein 496 Homo sapiens (Human) PR
Q96N95 ZNF396 Zinc finger protein 396 Homo sapiens (Human) PR
Q9ULJ3 ZBTB21 Zinc finger and BTB domain-containing protein 21 Homo sapiens (Human) PR
O75840 KLF7 Krueppel-like factor 7 Homo sapiens (Human) PR
Q9H9D4 ZNF408 Zinc finger protein 408 Homo sapiens (Human) PR
Q13127 REST RE1-silencing transcription factor Homo sapiens (Human) PR
Q8IZM8 ZNF654 Zinc finger protein 654 Homo sapiens (Human) PR
Q14526 HIC1 Hypermethylated in cancer 1 protein Homo sapiens (Human) PR
P17022 ZNF18 Zinc finger protein 18 Homo sapiens (Human) PR
Q86XF7 ZNF575 Zinc finger protein 575 Homo sapiens (Human) PR
Q06889 EGR3 Early growth response protein 3 Homo sapiens (Human) PR
Q8NAM6 ZSCAN4 Zinc finger and SCAN domain-containing protein 4 Homo sapiens (Human) PR
Q08ER8 ZNF543 Zinc finger protein 543 Homo sapiens (Human) PR
P17029 ZKSCAN1 Zinc finger protein with KRAB and SCAN domains 1 Homo sapiens (Human) PR
Q8N680 ZBTB2 Zinc finger and BTB domain-containing protein 2 Homo sapiens (Human) PR
O95625 ZBTB11 Zinc finger and BTB domain-containing protein 11 Homo sapiens (Human) PR
Q9NPC7 MYNN Myoneurin Homo sapiens (Human) PR
Q96BV0 ZNF775 Zinc finger protein 775 Homo sapiens (Human) PR
Q8NF99 ZNF397 Zinc finger protein 397 Homo sapiens (Human) PR
Q63HK3 ZKSCAN2 Zinc finger protein with KRAB and SCAN domains 2 Homo sapiens (Human) PR
Q5FWF6 ZNF789 Zinc finger protein 789 Homo sapiens (Human) PR
Q15776 ZKSCAN8 Zinc finger protein with KRAB and SCAN domains 8 Homo sapiens (Human) PR
Q53GI3 ZNF394 Zinc finger protein 394 Homo sapiens (Human) PR
O95125 ZNF202 Zinc finger protein 202 Homo sapiens (Human) PR
Q05516 ZBTB16 Zinc finger and BTB domain-containing protein 16 Homo sapiens (Human) PR
Q9H116 GZF1 GDNF-inducible zinc finger protein 1 Homo sapiens (Human) PR
Q8N0Y2 ZNF444 Zinc finger protein 444 Homo sapiens (Human) PR
Q6P9G9 ZNF449 Zinc finger protein 449 Homo sapiens (Human) PR
Q8IW36 ZNF695 Zinc finger protein 695 Homo sapiens (Human) PR
Q5VTD9 GFI1B Zinc finger protein Gfi-1b Homo sapiens (Human) PR
Q6PG37 ZNF790 Zinc finger protein 790 Homo sapiens (Human) PR
Q9NQV6 PRDM10 PR domain zinc finger protein 10 Homo sapiens (Human) PR
Q9Y2D9 ZNF652 Zinc finger protein 652 Homo sapiens (Human) PR
Q5TC79 ZBTB37 Zinc finger and BTB domain-containing protein 37 Homo sapiens (Human) PR
Q8ND82 ZNF280C Zinc finger protein 280C Homo sapiens (Human) PR
Q49AA0 ZFP69 Zinc finger protein 69 homolog Homo sapiens (Human) PR
O43298 ZBTB43 Zinc finger and BTB domain-containing protein 43 Homo sapiens (Human) PR
Q9Y330 ZBTB12 Zinc finger and BTB domain-containing protein 12 Homo sapiens (Human) PR
Q13105 ZBTB17 Zinc finger and BTB domain-containing protein 17 Homo sapiens (Human) PR
P51508 ZNF81 Zinc finger protein 81 Homo sapiens (Human) PR
Q5JNZ3 ZNF311 Zinc finger protein 311 Homo sapiens (Human) PR
Q9BRR0 ZKSCAN3 Zinc finger protein with KRAB and SCAN domains 3 Homo sapiens (Human) PR
Q969J2 ZKSCAN4 Zinc finger protein with KRAB and SCAN domains 4 Homo sapiens (Human) PR
P49910 ZNF165 Zinc finger protein 165 Homo sapiens (Human) PR
Q9Y4X4 KLF12 Krueppel-like factor 12 Homo sapiens (Human) PR
P10074 ZBTB48 Telomere zinc finger-associated protein Homo sapiens (Human) PR
P17010 ZFX Zinc finger X-chromosomal protein Homo sapiens (Human) PR
Q9H5H4 ZNF768 Zinc finger protein 768 Homo sapiens (Human) PR
Q6NSZ9 ZSCAN25 Zinc finger and SCAN domain-containing protein 25 Homo sapiens (Human) PR
Q9Y2L8 ZKSCAN5 Zinc finger protein with KRAB and SCAN domains 5 Homo sapiens (Human) PR
Q86UZ6 ZBTB46 Zinc finger and BTB domain-containing protein 46 Homo sapiens (Human) PR
Q9NX65 ZSCAN32 Zinc finger and SCAN domain-containing protein 32 Homo sapiens (Human) PR
O14771 ZNF213 Zinc finger protein 213 Homo sapiens (Human) PR
Q8IWY8 ZSCAN29 Zinc finger and SCAN domain-containing protein 29 Homo sapiens (Human) PR
Q8NCP5 ZBTB44 Zinc finger and BTB domain-containing protein 44 Homo sapiens (Human) PR
P41182 BCL6 B-cell lymphoma 6 protein Homo sapiens (Human) PR
Q9NQX0 PRDM6 Putative histone-lysine N-methyltransferase PRDM6 Homo sapiens (Human) PR
Q9BU19 ZNF692 Zinc finger protein 692 Homo sapiens (Human) PR
Q08AG5 ZNF844 Zinc finger protein 844 Homo sapiens (Human) PR
Q6R2W3 ZBED9 SCAN domain-containing protein 3 Homo sapiens (Human) PR
P98182 ZNF200 Zinc finger protein 200 Homo sapiens (Human) PR
Q9UK11 ZNF223 Zinc finger protein 223 Homo sapiens (Human) PR
O15156 ZBTB7B Zinc finger and BTB domain-containing protein 7B Homo sapiens (Human) PR
Q6ZMS7 ZNF783 Zinc finger protein 783 Homo sapiens (Human) PR
P59923 ZNF445 Zinc finger protein 445 Homo sapiens (Human) PR
Q8N859 ZNF713 Zinc finger protein 713 Homo sapiens (Human) PR
Q99612 KLF6 Krueppel-like factor 6 Homo sapiens (Human) PR
Q8TD17 ZNF398 Zinc finger protein 398 Homo sapiens (Human) PR
P52739 ZNF131 Zinc finger protein 131 Homo sapiens (Human) PR
A6NGD5 ZSCAN5C Zinc finger and SCAN domain-containing protein 5C Homo sapiens (Human) PR
Q05215 EGR4 Early growth response protein 4 Homo sapiens (Human) PR
Q7Z398 ZNF550 Zinc finger protein 550 Homo sapiens (Human) PR
Q9Y2K1 ZBTB1 Zinc finger and BTB domain-containing protein 1 Homo sapiens (Human) PR
Q96N20 ZNF75A Zinc finger protein 75A Homo sapiens (Human) PR
A6NJL1 ZSCAN5B Zinc finger and SCAN domain-containing protein 5B Homo sapiens (Human) PR
A1YPR0 ZBTB7C Zinc finger and BTB domain-containing protein 7C Homo sapiens (Human) PR
Q9NWS9 ZNF446 Zinc finger protein 446 Homo sapiens (Human) PR
P24278 ZBTB25 Zinc finger and BTB domain-containing protein 25 Homo sapiens (Human) PR
Q96N38 ZNF714 Zinc finger protein 714 Homo sapiens (Human) PR
Q86YH2 ZNF280B Zinc finger protein 280B Homo sapiens (Human) PR
O08584 Klf6 Krueppel-like factor 6 Mus musculus (Mouse) PR
Q61164 Ctcf Transcriptional repressor CTCF Mus musculus (Mouse) PR
Q810A1 Znf18 Zinc finger protein 18 Mus musculus (Mouse) PR
Q8BGS3 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Mus musculus (Mouse) PR
Q00899 Yy1 Transcriptional repressor protein YY1 Mus musculus (Mouse) PR
P41183 Bcl6 B-cell lymphoma 6 protein homolog Mus musculus (Mouse) PR
Q9DAI4 Zbtb43 Zinc finger and BTB domain-containing protein 43 Mus musculus (Mouse) PR
O70237 Gfi1b Zinc finger protein Gfi-1b Mus musculus (Mouse) PR
Q99KZ6 Znf639 Zinc finger protein 639 Mus musculus (Mouse) PR
Q9Z1D9 Znf394 Zinc finger protein 394 Mus musculus (Mouse) PR
Q9CXE0 Prdm5 PR domain zinc finger protein 5 Mus musculus (Mouse) PR
P43300 Egr3 Early growth response protein 3 Mus musculus (Mouse) PR
Q9DAU9 Znf654 Zinc finger protein 654 Mus musculus (Mouse) PR
Q9R1Y5 Hic1 Hypermethylated in cancer 1 protein Mus musculus (Mouse) PR
Q8R0T2 Znf768 Zinc finger protein 768 Mus musculus (Mouse) PR
Q9WVG7 Osr1 Protein odd-skipped-related 1 Mus musculus (Mouse) PR
Q8BI73 Znf775 Zinc finger protein 775 Mus musculus (Mouse) PR
Q8VCZ7 Zbtb7c Zinc finger and BTB domain-containing protein 7C Mus musculus (Mouse) PR
Q91VN1 Znf24 Zinc finger protein 24 Mus musculus (Mouse) PR
Q9DB38 Znf580 Zinc finger protein 580 Mus musculus (Mouse) PR
A7KBS4 Zscan4d Zinc finger and SCAN domain containing protein 4D Mus musculus (Mouse) PR
Q91VW9 Zkscan3 Zinc finger protein with KRAB and SCAN domains 3 Mus musculus (Mouse) PR
P10925 Zfy1 Zinc finger Y-chromosomal protein 1 Mus musculus (Mouse) PR
P08046 Egr1 Early growth response protein 1 Mus musculus (Mouse) PR
Q3TTC2 Yy2 Transcription factor YY2 Mus musculus (Mouse) PR
Q3UTQ7 Prdm10 PR domain zinc finger protein 10 Mus musculus (Mouse) PR
Q6P3Y5 Znf280c Zinc finger protein 280C Mus musculus (Mouse) PR
Q9ERU3 Znf22 Zinc finger protein 22 Mus musculus (Mouse) PR
Q8VIG1 Rest RE1-silencing transcription factor Mus musculus (Mouse) PR
Q9Z1D8 Zkscan5 Zinc finger protein with KRAB and SCAN domains 5 Mus musculus (Mouse) PR
Q8BID6 Zbtb46 Zinc finger and BTB domain-containing protein 46 Mus musculus (Mouse) PR
P17012 Zfx Zinc finger X-chromosomal protein Mus musculus (Mouse) PR
Q9WUK6 Zbtb18 Zinc finger and BTB domain-containing protein 18 Mus musculus (Mouse) PR
O35738 Klf12 Krueppel-like factor 12 Mus musculus (Mouse) PR
B2RXC5 Znf382 Zinc finger protein 382 Mus musculus (Mouse) PR
O08900 Ikzf3 Zinc finger protein Aiolos Mus musculus (Mouse) PR
Q5DU09 Znf652 Zinc finger protein 652 Mus musculus (Mouse) PR
Q5RJ54 Zscan26 Zinc finger and SCAN domain-containing protein 26 Mus musculus (Mouse) PR
Q8BLM0 Klf8 Krueppel-like factor 8 Mus musculus (Mouse) PR
Q99JB0 Klf7 Krueppel-like factor 7 Mus musculus (Mouse) PR
Q8R0A2 Zbtb44 Zinc finger and BTB domain-containing protein 44 Mus musculus (Mouse) PR
P20662 Zfy2 Zinc finger Y-chromosomal protein 2 Mus musculus (Mouse) PR
Q80VJ6 Zscan4c Zinc finger and SCAN domain containing protein 4C Mus musculus (Mouse) PR
Q3URS2 Zscan4f Zinc finger and SCAN domain containing protein 4F Mus musculus (Mouse) PR
Q60980 Klf3 Krueppel-like factor 3 Mus musculus (Mouse) PR
Q8K3J5 Znf131 Zinc finger protein 131 Mus musculus (Mouse) PR
Q9Z2K3 Znf394 Zinc finger protein 394 Rattus norvegicus (Rat) PR
Q642B9 Znf18 Zinc finger protein 18 Rattus norvegicus (Rat) PR
B0K011 Osr1 Protein odd-skipped-related 1 Rattus norvegicus (Rat) PR
D3ZUU2 Gzf1 GDNF-inducible zinc finger protein 1 Rattus norvegicus (Rat) PR
B1WBU4 Zbtb8a Zinc finger and BTB domain-containing protein 8A Rattus norvegicus (Rat) PR
Q7TNK3 Znf24 Zinc finger protein 24 Rattus norvegicus (Rat) PR
O35819 Klf6 Krueppel-like factor 6 Rattus norvegicus (Rat) PR
Q9R1D1 Ctcf Transcriptional repressor CTCF Rattus norvegicus (Rat) PR
P43301 Egr3 Early growth response protein 3 Rattus norvegicus (Rat) PR
P08154 Egr1 Early growth response protein 1 Rattus norvegicus (Rat) PR
A0JPL0 Znf382 Zinc finger protein 382 Rattus norvegicus (Rat) PR
Q4KLI1 Zkscan1 Zinc finger protein with KRAB and SCAN domains 1 Rattus norvegicus (Rat) PR
A1L1J6 Znf652 Zinc finger protein 652 Rattus norvegicus (Rat) PR
Q9SHD0 ZAT4 Zinc finger protein ZAT4 Arabidopsis thaliana (Mouse-ear cress) PR
Q0P4X6 zbtb44 Zinc finger and BTB domain-containing protein 44 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
A4II20 egr1 Early growth response protein 1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q6P882 zbtb8a.2 Zinc finger and BTB domain-containing protein 8A.2 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q567C6 znf367 Zinc finger protein 367 Danio rerio (Zebrafish) (Brachydanio rerio) PR
A7Y7X5 znf711 Zinc finger protein 711 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MGDPGSEIIE SVPPAGPEAS ESTTDENEDD IQFVSEGPLR PVLEYIDLVS SDDEEPSTSY
70 80 90 100 110 120
TDENIKRKDH IDYQKDKVAL TLARLARHVE VEKQQKEEKN RAFREKIDFQ HAHGLQELEF
130 140 150 160 170 180
IRGHSDTEAA RLCVDQWLKM PGLKTGTINC GTKSSFRRGG HTWVSGKPIL CPIMHCNKEF
190 200 210 220 230 240
DNGHLLLGHL KRFDHSPCDP TITLHGPFFS SFACVVCYKK FVTQQQYRDH LFDKEATDDG
250 260 270 280 290 300
HNNNLLPQII QCFACPNCFL LFSRKEECSK HMSGKNHFHQ SFKLGDNKGI AHPISFPSFA
310 320 330 340 350 360
KKLLISLCKD VPFQVKCVAC HKTLRSHMEL TAHFRVHCRN AGPVAVAEKS ITQVAEKFIL
370 380 390 400 410 420
RGYCPDCNQV FVDETSTQNH KQNSGHKVRV INSVEESVLL YCHSSEGNKD PSSDLHLLLD
430 440 450 460 470 480
QSKFSSLKRT MSIKESSSLE CIAIPKKKMN LKDKSHEGVA CVQKEKSVVK TWFCECNQRF
490 500 510 520 530 540
PSEDAVEKHV FSANTMGYKC VVCGKVCDDS GVIRLHMSRI HGGAHLNNFL FWCRTCKKEL
550 560 570 580 590 600
TRKDTIMAHV TEFHNGHRYF YEMDEVEGET LPSSSTTLDN LTANKPSSAI TVIDHSPANS
610 620 630 640 650 660
SPRGKWQCRI CEDMFDSQEY VKQHCMSLAS HKFHRYSCAH CRKPFHKIET LYRHCQDEHD
670 680 690 700 710 720
NEIKIKYFCG LCDLIFNVEE AFLSHYEEHH SIDYVFVSEK TETSIKTEDD FPVIETSNQL
730 740 750 760 770 780
TCGCRESYIC KVNRKEDYSR CLQIMLDKGK LWFRCSLCSA TAQNLTDMNT HIHQVHKEKS
790 800 810 820 830 840
DEEEQQYVIK CGTCTKAFHD PESAQQHFHR KHCFLQKPSV AHFGSEKSNL YKFTASASHT
850 860 870 880 890 900
ERKLKQAINY SKSLDMEKGV ENDLSYQNIE EEIVELPDLD YLRTMTHIVF VDFDNWSNFF
910 920 930 940 950 960
GHLPGHLNQG TFIWGFQGGN TNWKPPLNCK IYNYLNRIGC FFLHPRCSKR KDAADFAICM
970 980 990 1000 1010 1020
HAGRLDEQLP KQIPFTILSG DQGFLELENQ FKKTQRPAHI LNPHHLEGDM MCALLNSISD
1030 1040 1050 1060
TTKECDSDDN MGAKNTSIGE EFISTEDVEL EEAIRRSLEE M